{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T17:40:11Z","timestamp":1756316411050,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"11","license":[{"start":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T00:00:00Z","timestamp":1730851200000},"content-version":"unspecified","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004735","name":"Hunan Provincial Natural Science Foundation","doi-asserted-by":"crossref","award":["2021JJ70082","2021JJ70132"],"award-info":[{"award-number":["2021JJ70082","2021JJ70132"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,10,16]]},"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:p>20p chromosome inverted duplication deletion syndrome is a rare chromosomal disorder in which the short arm segment 20p11.2\u2013p13 and the deleted subtopic region 20p13\u201320 replicate simultaneously. Patients with this syndrome are mainly presented with intellectual disability and motor development delay. We report here a middle childhood case of this syndrome characterised by intellectual disability, backward movement, unique facial features, congenital heart disease: ventricular septal defect, patent foramen ovale, pulmonary hypertension and congenital anorectal malformation. The patient\u2019s chromosome karyotyping analysis showed a short arm duplication on chromosome 20, described as 46, XY, 20p+?; his parents\u2019 karyotyping analysis is normal. Later genotype analysis by array-single nucleotide polymorphisms identified a total of 107 genome-wide copy number variations and we detected a new 1.3\u2009Mb deletion (chr20:63\u2009244\u20131 349 002) and 20.2\u2009Mb duplication (chr20:1 608 108\u201324 174 965) from 20p13 to 20p11.2 using infinium asian screening array-24 V1.0 BeadChip (Illumina Inc., San Diego, USA).<\/jats:p>","DOI":"10.1136\/bcr-2024-261019","type":"journal-article","created":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T12:10:12Z","timestamp":1730981412000},"page":"e261019","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["20p chromosome inverted duplication syndrome with phenotypes of congenital heart disease, anorectal malformation and megacolon"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4473-5127","authenticated-orcid":false,"given":"Guangxian","family":"Yang","sequence":"first","affiliation":[{"name":"Cardiothoracic Surgery, The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, Hunan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenwen","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Operating Theatre, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ni","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiping","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,11,7]]},"reference":[{"key":"2025082710075734000_17.11.e261019.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81648-8"},{"key":"2025082710075734000_17.11.e261019.2","doi-asserted-by":"crossref","first-page":"91","DOI":"10.3343\/alm.2012.32.1.91","article-title":"A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion","volume":"32","author":"Kang","year":"2012","journal-title":"Ann Lab Med"},{"key":"2025082710075734000_17.11.e261019.3","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1002\/ajmg.a.32640","article-title":"Molecular cytogenetic 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feature","volume":"158A","author":"Kamath","year":"2012","journal-title":"American J of Med Genetics Pt A"},{"key":"2025082710075734000_17.11.e261019.12","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/ajmg.1320400112","article-title":"Alagille syndrome associated with caudal dysplasia sequence","volume":"40","author":"Rodr\u00edguez","year":"1991","journal-title":"Am J Med Genet"},{"key":"2025082710075734000_17.11.e261019.13","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2279"},{"key":"2025082710075734000_17.11.e261019.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.10.006"},{"key":"2025082710075734000_17.11.e261019.15","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1002\/ajmg.b.32187","article-title":"SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay","volume":"162B","author":"An","year":"2013","journal-title":"Am J Med Genet B Neuropsychiatr 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